LOCUS       NM_032120               4667 bp    mRNA    linear   PRI 20-NOV-2024
DEFINITION  Homo sapiens RNA binding motif protein 48 (RBM48), transcript
            variant 1, mRNA.
ACCESSION   NM_032120
VERSION     NM_032120.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4667)
  AUTHORS   Siebert,A.E., Corll,J., Paige Gronevelt,J., Levine,L., Hobbs,L.M.,
            Kenney,C., Powell,C.L.E., Battistuzzi,F.U., Davenport,R., Mark
            Settles,A., Brad Barbazuk,W., Westrick,R.J., Madlambayan,G.J. and
            Lal,S.
  TITLE     Genetic analysis of human RNA binding motif protein 48 (RBM48)
            reveals an essential role in U12-type intron splicing
  JOURNAL   Genetics 222 (2) (2022)
   PUBMED   36040194
  REMARK    GeneRIF: Genetic analysis of human RNA binding motif protein 48
            (RBM48) reveals an essential role in U12-type intron splicing.
REFERENCE   2  (bases 1 to 4667)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 4667)
  AUTHORS   Bai,R., Wan,R., Wang,L., Xu,K., Zhang,Q., Lei,J. and Shi,Y.
  TITLE     Structure of the activated human minor spliceosome
  JOURNAL   Science 371 (6535) (2021)
   PUBMED   33509932
REFERENCE   4  (bases 1 to 4667)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 4667)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 4667)
  AUTHORS   Stelzl,U., Worm,U., Lalowski,M., Haenig,C., Brembeck,F.H.,
            Goehler,H., Stroedicke,M., Zenkner,M., Schoenherr,A., Koeppen,S.,
            Timm,J., Mintzlaff,S., Abraham,C., Bock,N., Kietzmann,S.,
            Goedde,A., Toksoz,E., Droege,A., Krobitsch,S., Korn,B.,
            Birchmeier,W., Lehrach,H. and Wanker,E.E.
  TITLE     A human protein-protein interaction network: a resource for
            annotating the proteome
  JOURNAL   Cell 122 (6), 957-968 (2005)
   PUBMED   16169070
REFERENCE   7  (bases 1 to 4667)
  AUTHORS   Goehler,H., Lalowski,M., Stelzl,U., Waelter,S., Stroedicke,M.,
            Worm,U., Droege,A., Lindenberg,K.S., Knoblich,M., Haenig,C.,
            Herbst,M., Suopanki,J., Scherzinger,E., Abraham,C., Bauer,B.,
            Hasenbank,R., Fritzsche,A., Ludewig,A.H., Bussow,K., Coleman,S.H.,
            Gutekunst,C.A., Landwehrmeyer,B.G., Lehrach,H. and Wanker,E.E.
  TITLE     A protein interaction network links GIT1, an enhancer of huntingtin
            aggregation, to Huntington's disease
  JOURNAL   Mol Cell 15 (6), 853-865 (2004)
   PUBMED   15383276
  REMARK    Erratum:[Mol Cell. 2005 Jul 22;19(2):287. Buessow, Konrad
            [corrected to Bussow, Konrad]]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC044570.1, AC005156.1 and BX113088.1.
            
            On Nov 22, 2018 this sequence version replaced NM_032120.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.101333.1,
                                           SRR1803615.58469.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000265732.10/ ENSP00000265732.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1691              BC044570.1         6-1696
            1692-4238           AC005156.1         4256-6802
            4239-4667           BX113088.1         1-429
FEATURES             Location/Qualifiers
     source          1..4667
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.2"
     gene            1..4667
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
                     /note="RNA binding motif protein 48"
                     /db_xref="GeneID:84060"
                     /db_xref="HGNC:HGNC:21785"
                     /db_xref="MIM:621015"
     exon            1..130
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
                     /inference="alignment:Splign:2.1.0"
     CDS             20..1123
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
                     /note="isoform 1 is encoded by transcript variant 1;
                     UPF0712 protein C7orf64; RNA-binding protein 48"
                     /codon_start=1
                     /product="RNA-binding protein 48 isoform 1"
                     /protein_id="NP_115496.2"
                     /db_xref="CCDS:CCDS43615.1"
                     /db_xref="GeneID:84060"
                     /db_xref="HGNC:HGNC:21785"
                     /db_xref="MIM:621015"
                     /translation="MASSGGELGSLFDHHVQRAVCDTRAKYREGRRPRAVKVYTINLE
                     SQYLLIQGVPAVGVMKELVERFALYGAIEQYNALDEYPAEDFTEVYLIKFMNLQSART
                     AKRKMDEQSFFGGLLHVCYAPEFETVEETRKKLQMRKAYVVKTTENKDHYVTKKKLVT
                     EHKDTEDFRQDFHSEMSGFCKAALNTSAGNSNPYLPYSCELPLCYFSSKCMCSSGGPV
                     DRAPDSSKDGRNHHKTMGHYNHNDSLRKTQINSLKNSVACPGAQKAITSSEAVDRFMP
                     RTTQLQERKRRREDDRKLGTFLQTNPTGNEIMIGPLLPDISKVDMHDDSLNTTANLIR
                     HKLKEVISSVPKPPEDKPEDVHTSHPLKQRRRI"
     exon            131..321
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
                     /inference="alignment:Splign:2.1.0"
     exon            322..467
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
                     /inference="alignment:Splign:2.1.0"
     exon            468..1036
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..4667
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1678..1683
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
                     /note="hexamer: AATAAA"
     polyA_site      1696
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
                     /note="major polyA site"
     regulatory      2167..2172
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
                     /note="hexamer: GATAAA"
     polyA_site      2189
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
     regulatory      3927..3932
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
                     /note="hexamer: GATAAA"
     polyA_site      3951
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
     polyA_site      4489
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
     regulatory      4637..4642
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
                     /note="hexamer: AATAAA"
     polyA_site      4667
                     /gene="RBM48"
                     /gene_synonym="C7orf64; HSPC304"
ORIGIN      
        1 gaggatcaaa gtaggcaaga tggcgtcgag cggcggggag ctagggagtt tatttgatca
       61 ccacgtccag agggcggtat gcgacacacg ggccaaatat cgagagggac gacggcctcg
      121 tgctgtgaag gtatatacaa tcaatttgga atctcagtac ttattaatac aaggagttcc
      181 tgctgtggga gtcatgaagg aattagttga gcgattcgct ttatatggtg caattgaaca
      241 gtacaatgct ctagatgaat acccagcaga agactttact gaagtttatc ttattaaatt
      301 tatgaactta caaagtgcaa ggacagccaa gagaaaaatg gatgaacaga gtttcttcgg
      361 tggattgctt catgtgtgct atgctccaga atttgaaaca gttgaagaaa ctagaaaaaa
      421 actacaaatg cggaaggcat atgtagtaaa aactactgaa aataaagacc attacgtgac
      481 aaagaagaaa ttggttacag agcataaaga cacagaggat tttagacaag acttccactc
      541 agagatgtct ggattttgta aagctgcttt gaacacttct gcagggaact caaatcctta
      601 tcttccgtat tcctgtgaat tgcctttatg ttatttctcc tcaaaatgta tgtgttcatc
      661 cgggggacct gtagacagag caccagactc ctctaaggat ggtagaaacc atcataaaac
      721 aatggggcat tataaccaca atgactcttt gcggaaaaca cagataaact ctttgaaaaa
      781 ctcagtggcc tgccctggtg cacaaaaggc tattacgtct tcagaggcag ttgacagatt
      841 tatgcctagg acaacacaac tgcaggagcg caaaagaaga agagaagatg atcgtaaact
      901 tggaactttt cttcaaacaa acccaactgg taatgagatt atgattggac ctctgttacc
      961 agacatctct aaagtggata tgcacgatga ctcattgaat acaacggcga atttaattcg
     1021 gcataaactt aaagaggtaa tttcatctgt gccaaagcct ccagaggaca agccagaaga
     1081 tgtacataca agtcatccat taaaacaaag aagaagaata tagagtgcca gcagcaactt
     1141 agtattttct aaaaagaaca tttattattt atttttagcc tgtcatttta attcttcaag
     1201 agattttact gctggtattt tttaatgcac tcctctttgt aatttcattc aagccatttg
     1261 tctaaagtca tttctttgtt ttttgggaga tggagtcttg ctctgttgcc caggctggaa
     1321 tgcagtggcg tgatctcggc tcactgcaac ctccacctcc cgggttcaag cgattctcct
     1381 gcctcagcct cctgagtatc tgggattaca ggcgtgcacc accatgcctg gctaagtttt
     1441 gtgttttttt tagtagagat gggttttcac catattggtc aggctggtct cgaactcctg
     1501 accttgtgat acacctgcct cagcctccca aagggatgag ccaccgcgcc tggcccattt
     1561 cttctttttt tgacccatac ttaatgttgc agaaactatt cttgtcataa cattatctct
     1621 catgtacagt aattatatgt aaattaattg aagcaaatat ggaaacttta caatagaaat
     1681 aaagataggc agccagcgtc tgtttccaat tataatacaa gtattgaatg aaccattgaa
     1741 acactagaag tcaggatgtt tccgaatgcc agggtttcaa aatcaagaca attctatgaa
     1801 gtaaaaagta gattagctat tagaacaaag ctgaaattag aaccttatat gctttaaata
     1861 acttttaaga atttgcttga cctgtggcaa tccaaaaata catcagtatt tataaattct
     1921 agacttctgt tactacttct ggcatatcca cacttttttc tgtcagtgga ttacataatt
     1981 ggaaatttca gtacatctag actgtctcta ttttcttttt ctttttttat ttttagtaga
     2041 gacagggtct cactgtgttg cccaggcagg tattgaactc ctgggctcaa gtgattcacc
     2101 cacctcggcc tcccaaagta ctaggattat gggtgtgacc cactgtgcct ggccattttc
     2161 tttactgata aaaataactt gagaaggtcc ataccgtggt gtgttgtttt catttctccc
     2221 tatctttaat ggcctcttgc ctagtggatt gaatttgaac ataccagtta ataaggttca
     2281 atttcagcta tgatgtactt gtagcaggac gagctgcaga caaaaccccg cagacaccag
     2341 gttatagaaa gaagaggctt tattcggcca ggagcgtcgg cagacttgtg tctcaagaac
     2401 cgtgctccct gaagaaaaag ttcctggtcc ttttaagggc ttacaactgt aagagggtct
     2461 gcgtgaaagg gttgtgatag acggagcaag tgatctatag gcaacacatg gttagagttg
     2521 gggggttaat ctttaacctc aggcctggtc agtggcgtcg gttggttttg ccactggctc
     2581 cattcctgtt gtttttcagc ttttactccc tcctcctctt cagagatggg agacaggaag
     2641 agaaatggcc tctctcctca cactgatcca aattaactag gatggctcca agtggtagat
     2701 ggtactaaca gcaagctgca gataaggagg gtaggcccta cttccatgtg aggtaattag
     2761 atacagtttt tgctgaaatc tcaggtaaag gatatattag agacctaagc atagaattgg
     2821 aaggagcaaa ttgctgtctg gttcaggctt ctcagactat aagttgctat gatctccacc
     2881 tcaggatctt gttaaaatgc agattctggt ggtggtggtg gccaggggct gtggggaggg
     2941 aaaatgagga gttacggttt aatgggcata gaatttcagt tttggaagat gaaaagagtt
     3001 ctagagatct gttgcatgac aaacgttacc tgacagttaa ggagaggagc tgctaaatgg
     3061 gtcgtgtgtt tctgaatggg ttcctgatag tcctgtgacc atgcggaagc cagcactcct
     3121 catccccacc aacataattc atcatgagga gagacagaaa gaaacctttg tggtgtcaag
     3181 cagcaaaaca aaacaaaaag attcaaatta agttggtttg ggtggggcct gagattctgc
     3241 atttttccca agtccctagg tgctgccagt gctgctggtg cacagaccat ctttgaatag
     3301 caaggctcta gataactggg ctacagatga actctggaag cagctgaaga acggttggct
     3361 gttccatcct aagcagttac tctgatctag tccattatgc tatatactgt tttcgctcat
     3421 ctcttttcag attggaagcc tgccttttac acattgcttt ttaccacacg tttccagaaa
     3481 gttaaaatgc ggggtagagg gaataaacta cagggagaca aataaattaa agagatgagt
     3541 tgaggtggat aaggatagct taataacatg caagctaatt tacaaaattt ccatataggt
     3601 tattattttg ggcacagtgg ctcatgccta taatcccagc actttgggag gccaaggtgg
     3661 gaggatcacc tgaggtcagg agttcaaggc cagcctggcc aacatgatga aactccatct
     3721 ctacaaaaaa tacaaaaagc caggcgtggt ggcaaatgcc tataatccca gctactcggg
     3781 aggctgaggc atgagaatta cttgaaccca ggaggcagag atcgcagtga gttgagattg
     3841 taccactgca ctccagtctg ggcaacagac ggagactgtg tctcaaaaaa aagtgttctt
     3901 gtataccatg tttgaaaagc atagttgata aaggaagaac atgtaaggca attttatgag
     3961 ccaaatcaat tattagactg atacttgcag ctcagaaaac ttttgtcaga tgcatacatg
     4021 aaaaaccttc ataagcacaa agtactctat gtctccaaaa ttttaaaaac attgacagca
     4081 attgtattga aagagatcaa gtgttctagc agtttgtggt gtacttgctg aaactctatt
     4141 cagtgttcta tcccttaagc aagccaatat accctggatt tggtttggga aatacaccat
     4201 acttacagga aacaggaatt gtctattgct aaagaggtta aaagctcaat ggaagtcttg
     4261 aatatagtta ctgaaataat catgaatgtc ttcttggggc ccaaatgcca ggatggggct
     4321 gaactctcaa tgattgcctt gacttcagca gtgggctgca gcccaacaga ggagagtgtc
     4381 tagcaagtat tactctctga ccctttaaaa tttttcctga atctatatgg gctattggca
     4441 ctagtaacta tacatttgct tctggtaaac atggtccaaa cacctccaac agaagtctgt
     4501 cttctcttac tgtttttcaa agtctgcaag cgatagcttg ccatcattgt cataatctta
     4561 ggaagatgtt tcttggtaaa tactagtttt aaattttgca tggcaaatag ctctctagac
     4621 taaaaaaatt ttaccaaata aaagttcaca cttctgtaga cacccta
//
